MutationT @ ster 2025

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 574728 (pathogenic)
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 9|1 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr9:35074489G>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.38, LOF (oe): 1.00, misssense (oe): 0.81, synonymous (oe): 0.89 ? (gnomAD)

Ensembl transcript ID

ENST00000448890.2

Genbank transcript ID

UniProt / AlphaMissense peptide

FANCG_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1642C>T
g.5516C>T

AA changes

R548* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Fanconi anemia complementation group G
Fanconi anemia

pathogenic

Variant DBs

dbSNP ID	rs779834525
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	72	72

Protein conservation

Species	Match	AA	Alignment
Human		548	F	L	L	S	V	Q	M	C	P	G	N	R	D	T	Y	F	H	L	L	Q	T	L	K	R	L	D	R	R	D	E	A	T	A	L	W	W	R	L	E	A	Q	T	K	G	S	H	E	D	A	L	W	S	L	P	L	Y	L	E	S	Y	L	S	W	I	R	P	S	D	R	D	A	F	L	E	E	F	R	T	S	L	P	K	S	C	D	L	*
mutated	partly conserved	404	V	F	L	E	A	A	V	ALIQ	A	G	R	A	Q	D	A	L	T	L	C	E	E	LLS	R	T	S	S	L	L	P	K	M	S	R	L	W	E	D	A	R	K	G	T	K	E	L	P	Y	C	P	L	W	V	S	A	T	H	L	L	Q	G	Q	A	W	V	Q	L	G	A	Q	K	V	A	I	S	E	F	S	R	C	L
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

Start (aa)	End (aa)	Feature	Details
1	622	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.33	0.049
	2.22	0.804
(flanking)	0.991	0.809

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

6

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

9

Strand

-1

Original gDNA sequence snippet

GGGCTGGGGCTACAGGTAATCGAGACACTTACTTTCACCTG

Altered gDNA sequence snippet

GGGCTGGGGCTACAGGTAATTGAGACACTTACTTTCACCTG

Original cDNA sequence snippet

TGCAGATGTGCCCAGGTAATCGAGACACTTACTTTCACCTG

Altered cDNA sequence snippet

TGCAGATGTGCCCAGGTAATTGAGACACTTACTTTCACCTG

Wildtype AA sequence

MSRQTTSVGS SCLDLWREKN DRLVRQAKVA QNSGLTLRRQ QLAQDALEGL RGLLHSLQGL
PAAVPVLPLE LTVTCNFIIL RASLAQGFTE DQAQDIQRSL ERVLETQEQQ GPRLEQGLRE
LWDSVLRASC LLPELLSALH RLVGLQAALW LSADRLGDLA LLLETLNGSQ SGASKDLLLL
LKTWSPPAEE LDAPLTLQDA QGLKDVLLTA FAYRQGLQEL ITGNPDKALS SLHEAASGLC
PRPVLVQVYT ALGSCHRKMG NPQRALLYLV AALKEGSAWG PPLLEASRLY QQLGDTTAEL
ESLELLVEAL NVPCSSKAPQ FLIEVELLLP PPDLASPLHC GTQSQTKHIL ASRCLQTGRA
GDAAEHYLDL LALLLDSSEP RFSPPPSPPG PCMPEVFLEA AVALIQAGRA QDALTLCEEL
LSRTSSLLPK MSRLWEDARK GTKELPYCPL WVSATHLLQG QAWVQLGAQK VAISEFSRCL
ELLFRATPEE KEQGAAFNCE QGCKSDAALQ QLRAAALISR GLEWVASGQD TKALQDFLLS
VQMCPGNRDT YFHLLQTLKR LDRRDEATAL WWRLEAQTKG SHEDALWSLP LYLESYLSWI
RPSDRDAFLE EFRTSLPKSC DL*

Mutated AA sequence

MSRQTTSVGS SCLDLWREKN DRLVRQAKVA QNSGLTLRRQ QLAQDALEGL RGLLHSLQGL
PAAVPVLPLE LTVTCNFIIL RASLAQGFTE DQAQDIQRSL ERVLETQEQQ GPRLEQGLRE
LWDSVLRASC LLPELLSALH RLVGLQAALW LSADRLGDLA LLLETLNGSQ SGASKDLLLL
LKTWSPPAEE LDAPLTLQDA QGLKDVLLTA FAYRQGLQEL ITGNPDKALS SLHEAASGLC
PRPVLVQVYT ALGSCHRKMG NPQRALLYLV AALKEGSAWG PPLLEASRLY QQLGDTTAEL
ESLELLVEAL NVPCSSKAPQ FLIEVELLLP PPDLASPLHC GTQSQTKHIL ASRCLQTGRA
GDAAEHYLDL LALLLDSSEP RFSPPPSPPG PCMPEVFLEA AVALIQAGRA QDALTLCEEL
LSRTSSLLPK MSRLWEDARK GTKELPYCPL WVSATHLLQG QAWVQLGAQK VAISEFSRCL
ELLFRATPEE KEQGAAFNCE QGCKSDAALQ QLRAAALISR GLEWVASGQD TKALQDFLLS
VQMCPGN*

Position of stopcodon in wt / mu CDS

1869 / 1644

Position (AA) of stopcodon in wt / mu AA sequence

623 / 548

Position of stopcodon in wt / mu cDNA

2092 / 1867

Position of start ATG in wt / mu cDNA

224 / 224

Last intron/exon boundary

1983

Theoretical NMD boundary in CDS

1709

Length of CDS

1869

Coding sequence (CDS) position

1642

cDNA position

1865

gDNA position

5516

Chromosomal position

35074489

Speed

0.11 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

9:35074489G>A_1_ENST00000378643

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 574728 (pathogenic)
NMD
Protein features (might be) affected

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr9:35074489G>A (GRCh38)

Gene symbol

Gene constraints

LOEUF: 1.05, LOF (oe): 0.86, misssense (oe): 0.82, synonymous (oe): 0.88 ? (gnomAD)

Ensembl transcript ID

ENST00000378643.8

Genbank transcript ID

NM_004629 (exact from MANE)

UniProt / AlphaMissense peptide

FANCG_HUMAN | AlphaMissense: transcript, gene

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1642C>T
g.5516C>T

AA changes

R548* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Fanconi anemia complementation group G
Fanconi anemia

pathogenic

Variant DBs

dbSNP ID	rs779834525
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	72	72

Protein conservation

Species	Match	AA	Alignment
Human		548	F	L	L	S	V	Q	M	C	P	G	N	R	D	T	Y	F	H	L	L	Q	T	L	K	R	L	D	R	R	D	E	A	T	A	L	W	W	R	L	E	A	Q	T	K	G	S	H	E	D	A	L	W	S	L	P	L	Y	L	E	S	Y	L	S	W	I	R	P	S	D	R	D	A	F	L	E	E	F	R	T	S	L	P	K	S	C	D	L	*
mutated	partly conserved	404	V	F	L	E	A	A	V	ALIQ	A	G	R	A	Q	D	A	L	T	L	C	E	E	LLS	R	T	S	S	L	L	P	K	M	S	R	L	W	E	D	A	R	K	G	T	K	E	L	P	Y	C	P	L	W	V	S	A	T	H	L	L	Q	G	Q	A	W	V	Q	L	G	A	Q	K	V	A	I	S	E	F	S	R	C	L
Ptroglodytes	all conserved	548					V	Q	M	C	P	G	N	R	D	T	Y	F	H	L	L	Q	T	L	K	R	L	D	R	R	D	E	A	T	A	L	W	W	R	L	E	A	Q	T	K	G	S	H	E	D	A	L	W	S	L	P	L	Y	L	E	S	Y	L	S	W	I	R	P	S	D	R	D	A	F	L	E	E	F	R	T	S	L	P	K	S	C	D	L
Mmulatta	no homologue
Fcatus	partly conserved	552									P	G	N	R	D	A	S	F	H	L	L	Q	T	L	R	R	M	D	R	R	D	E	A	I	A	L	W	R	S	L	E	A	Q	A	K	L	P	Q	E	N	A	A	W	S	L	P	L	Y	L	E	T	Y	L	S	W	I	R	S	P	D	R	E	T	L	L	E	E	F	Q	T	S	L	L	E	P	C	D	L
Mmusculus	partly conserved	553	F	L	L	S	V	Q	I	C	P	G	N	R	D	G	S	F	Y	L	L	Q	T	L	K	R	L	D	R	K	N	E	A	S	A	F	W	-	-	R	E	A	H	S	Q	L	P	L	E	D	A	A	G	S	L	P	L	Y	L	E	T	C	L	S	W	I	H	P	P	N	R	E	A	F
Ggallus	partly conserved	571	F	Q	H	G	L	Q	I	S	P	D	D	P	A	A	A	S	Y	L	V	Q	V	L	W	K	L	N	R	K	E	E	A	A	D	Y	W	Q	K	Y	L	E	S	P	A	G	E	D	G	Q	Q	E	R	Q	G	R	H	F	P	L	Y	L	D	S	C	L
Trubripes	partly conserved	516	L	Q	H	S	L	H	V	L	P	D	C	V	G	A	G	L	W	C	G	E	V	L	R	R	L	G	R	K	Q	D	A	A	A	C	W	E	K	T	R	S	S	A	T	P	S	S	T	E	-	-	-	S	V	S	L	Y	L
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no alignment	n/a

Protein features

Start (aa)	End (aa)	Feature	Details
1	622	CHAIN		lost

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.33	0.049
	2.22	0.804
(flanking)	0.991	0.809

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

6

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

9

Strand

-1

Original gDNA sequence snippet

GGGCTGGGGCTACAGGTAATCGAGACACTTACTTTCACCTG

Altered gDNA sequence snippet

GGGCTGGGGCTACAGGTAATTGAGACACTTACTTTCACCTG

Original cDNA sequence snippet

TGCAGATGTGCCCAGGTAATCGAGACACTTACTTTCACCTG

Altered cDNA sequence snippet

TGCAGATGTGCCCAGGTAATTGAGACACTTACTTTCACCTG

Wildtype AA sequence

MSRQTTSVGS SCLDLWREKN DRLVRQAKVA QNSGLTLRRQ QLAQDALEGL RGLLHSLQGL
PAAVPVLPLE LTVTCNFIIL RASLAQGFTE DQAQDIQRSL ERVLETQEQQ GPRLEQGLRE
LWDSVLRASC LLPELLSALH RLVGLQAALW LSADRLGDLA LLLETLNGSQ SGASKDLLLL
LKTWSPPAEE LDAPLTLQDA QGLKDVLLTA FAYRQGLQEL ITGNPDKALS SLHEAASGLC
PRPVLVQVYT ALGSCHRKMG NPQRALLYLV AALKEGSAWG PPLLEASRLY QQLGDTTAEL
ESLELLVEAL NVPCSSKAPQ FLIEVELLLP PPDLASPLHC GTQSQTKHIL ASRCLQTGRA
GDAAEHYLDL LALLLDSSEP RFSPPPSPPG PCMPEVFLEA AVALIQAGRA QDALTLCEEL
LSRTSSLLPK MSRLWEDARK GTKELPYCPL WVSATHLLQG QAWVQLGAQK VAISEFSRCL
ELLFRATPEE KEQGAAFNCE QGCKSDAALQ QLRAAALISR GLEWVASGQD TKALQDFLLS
VQMCPGNRDT YFHLLQTLKR LDRRDEATAL WWRLEAQTKG SHEDALWSLP LYLESYLSWI
RPSDRDAFLE EFRTSLPKSC DL*

Mutated AA sequence

MSRQTTSVGS SCLDLWREKN DRLVRQAKVA QNSGLTLRRQ QLAQDALEGL RGLLHSLQGL
PAAVPVLPLE LTVTCNFIIL RASLAQGFTE DQAQDIQRSL ERVLETQEQQ GPRLEQGLRE
LWDSVLRASC LLPELLSALH RLVGLQAALW LSADRLGDLA LLLETLNGSQ SGASKDLLLL
LKTWSPPAEE LDAPLTLQDA QGLKDVLLTA FAYRQGLQEL ITGNPDKALS SLHEAASGLC
PRPVLVQVYT ALGSCHRKMG NPQRALLYLV AALKEGSAWG PPLLEASRLY QQLGDTTAEL
ESLELLVEAL NVPCSSKAPQ FLIEVELLLP PPDLASPLHC GTQSQTKHIL ASRCLQTGRA
GDAAEHYLDL LALLLDSSEP RFSPPPSPPG PCMPEVFLEA AVALIQAGRA QDALTLCEEL
LSRTSSLLPK MSRLWEDARK GTKELPYCPL WVSATHLLQG QAWVQLGAQK VAISEFSRCL
ELLFRATPEE KEQGAAFNCE QGCKSDAALQ QLRAAALISR GLEWVASGQD TKALQDFLLS
VQMCPGN*

Position of stopcodon in wt / mu CDS

1869 / 1644

Position (AA) of stopcodon in wt / mu AA sequence

623 / 548

Position of stopcodon in wt / mu cDNA

2287 / 2062

Position of start ATG in wt / mu cDNA

419 / 419

Last intron/exon boundary

2178

Theoretical NMD boundary in CDS

1709

Length of CDS

1869

Coding sequence (CDS) position

1642

cDNA position

2060

gDNA position

5516

Chromosomal position

35074489

Speed

0.05 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

9:35074489G>A_3_ENST00000696710

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 574728 (pathogenic)
NMD

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr9:35074489G>A (GRCh38)

Gene symbol

Gene constraints

no data

Ensembl transcript ID

ENST00000696710.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1636C>T
g.5516C>T

AA changes

R546* Score: 6.0?

Frameshift

No

Length of protein

NMD

Pathogenic variant (ClinVar)

Fanconi anemia complementation group G
Fanconi anemia

pathogenic

Variant DBs

dbSNP ID	rs779834525
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	72	72

Protein conservation

Species	Match	AA	Alignment
Human		546	F	L	L	S	V	Q	M	C	P	G	N	R	D	T	Y	F	H	L	L	Q	T	L	K	R
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.33	0.049
	2.22	0.804
(flanking)	0.991	0.809

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

6

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

9

Strand

-1

Original gDNA sequence snippet

GGGCTGGGGCTACAGGTAATCGAGACACTTACTTTCACCTG

Altered gDNA sequence snippet

GGGCTGGGGCTACAGGTAATTGAGACACTTACTTTCACCTG

Original cDNA sequence snippet

TGCAGATGTGCCCAGGTAATCGAGACACTTACTTTCACCTG

Altered cDNA sequence snippet

TGCAGATGTGCCCAGGTAATTGAGACACTTACTTTCACCTG

Wildtype AA sequence

MSRQTTSVGS SCLDLWREKN DRLVRQAKVA QNSGLTLRRQ QLAQDALEGL RGLLHSLQGL
PAAVPVLPLE LTVTCNFIIL RASLAQGFTE DQAQDIQRSL ERVLETQEQQ GPRLEQGLRE
LWDSVLRASC LLPELLSALH RLVGLQAALW LSADRLGDLA LLLETLNGSQ SGASKDLLLL
LKTWSPPAEE LDAPLTLQDA QGLKDVLLTA FAYRQGLQEL ITGNPDKALS SLHEAASGLC
PRPVLVQVYT ALGSCHRKMG NPQRALLYLV AALKEGSAWG PPLLEASRLY QQLGDTTAEL
ESLELLVEAL NVPCSSKAPQ FLIEVELLLP PPDLASPLHC GTQSQTKHIL ASRCLQTGRA
GDAAEHYLDL LALLLDSSEP RFSPPPSPPG PCMPEVFLEA AVALIQAGRA QDALTLCEEL
LSRTSSLLPK MSRLWEDARK GTKELPYCPL WVSATHLLQG QAWVQLGAQK VAISEFSRCL
ELLFRATPEE KEQAFNCEQG CKSDAALQQL RAAALISRGL EWVASGQDTK ALQDFLLSVQ
MCPGNRDTYF HLLQTLKRLD RRDEATALWW RLEAQTKGSH EDALWSLPLY LESYLSWIRP
SDRDAFLEEF RTSLPKSCDL *

Mutated AA sequence

MSRQTTSVGS SCLDLWREKN DRLVRQAKVA QNSGLTLRRQ QLAQDALEGL RGLLHSLQGL
PAAVPVLPLE LTVTCNFIIL RASLAQGFTE DQAQDIQRSL ERVLETQEQQ GPRLEQGLRE
LWDSVLRASC LLPELLSALH RLVGLQAALW LSADRLGDLA LLLETLNGSQ SGASKDLLLL
LKTWSPPAEE LDAPLTLQDA QGLKDVLLTA FAYRQGLQEL ITGNPDKALS SLHEAASGLC
PRPVLVQVYT ALGSCHRKMG NPQRALLYLV AALKEGSAWG PPLLEASRLY QQLGDTTAEL
ESLELLVEAL NVPCSSKAPQ FLIEVELLLP PPDLASPLHC GTQSQTKHIL ASRCLQTGRA
GDAAEHYLDL LALLLDSSEP RFSPPPSPPG PCMPEVFLEA AVALIQAGRA QDALTLCEEL
LSRTSSLLPK MSRLWEDARK GTKELPYCPL WVSATHLLQG QAWVQLGAQK VAISEFSRCL
ELLFRATPEE KEQAFNCEQG CKSDAALQQL RAAALISRGL EWVASGQDTK ALQDFLLSVQ
MCPGN*

Position of stopcodon in wt / mu CDS

1863 / 1638

Position (AA) of stopcodon in wt / mu AA sequence

621 / 546

Position of stopcodon in wt / mu cDNA

2265 / 2040

Position of start ATG in wt / mu cDNA

403 / 403

Last intron/exon boundary

2156

Theoretical NMD boundary in CDS

1703

Length of CDS

1863

Coding sequence (CDS) position

1636

cDNA position

2038

gDNA position

5516

Chromosomal position

35074489

Speed

0.04 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project

MutationT@ster 2025

Variant:

9:35074489G>A_4_ENST00000696715

Prediction:

DeleteriousPermalink

Summary:

Amino acid sequence changed
Known disease mutation: ClinVar ID 574728 (pathogenic)
Truncated protein (might cause NMD)

Model: complex_aae
Tree vote: 10|0 (del | benign) ?
Automatic classification due to ClinVar

Analysed issue

Analysis result

Variant

Chr9:35074489G>A (GRCh38)

Gene symbol

Gene constraints

no data

Ensembl transcript ID

ENST00000696715.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

CDS

DNA changes

c.1642C>T
g.5516C>T

AA changes

AAE:

R548*

D549-

T550-

Y551-

F552-

H553-

L554-

L555-

Q556-

T557-

L558-

K559-

R560-

L561-

D562-

R563-

R564-

D565-

E566-

A567-

T568-

A569-

L570-

W571-

W572-

R573-

L574-

E575-

A576-

Q577-

T578-

K579-

G580-

S581-

H582-

E583-

D584-

A585-

L586-

W587-

*588-

?

Score:

-

Frameshift

No

Length of protein

Slightly truncated protein, might cause NMD (-40 AA / less than 10% missing)

Pathogenic variant (ClinVar)

Fanconi anemia complementation group G
Fanconi anemia

pathogenic

Variant DBs

dbSNP ID	rs779834525
gnomAD	homozygous (A/A)	heterozygous	allele carriers
	0	72	72

Protein conservation

Species	Match	AA	Alignment
Human		548	F	L	L	S	V	Q	M	C	P	G	N	R	D	T	Y	F	H	L	L	Q	T	L	K	R
mutated	no alignment	n/a
Ptroglodytes	no homologue
Mmulatta	no homologue
Fcatus	no homologue
Mmusculus	no homologue
Ggallus	no homologue
Trubripes	no homologue
Drerio	no homologue
Dmelanogaster	no homologue
Celegans	no homologue
Xtropicalis	no homologue

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	-1.33	0.049
	2.22	0.804
(flanking)	0.991	0.809

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

6

Kozak consensus sequence altered?

No

poly(A) signal

N/A

AA sequence altered

Yes

Chromosome

9

Strand

-1

Original gDNA sequence snippet

GGGCTGGGGCTACAGGTAATCGAGACACTTACTTTCACCTG

Altered gDNA sequence snippet

GGGCTGGGGCTACAGGTAATTGAGACACTTACTTTCACCTG

Original cDNA sequence snippet

TGCAGATGTGCCCAGGTAATCGAGACACTTACTTTCACCTG

Altered cDNA sequence snippet

TGCAGATGTGCCCAGGTAATTGAGACACTTACTTTCACCTG

Wildtype AA sequence

MSRQTTSVGS SCLDLWREKN DRLVRQAKVA QNSGLTLRRQ QLAQDALEGL RGLLHSLQGL
PAAVPVLPLE LTVTCNFIIL RASLAQGFTE DQAQDIQRSL ERVLETQEQQ GPRLEQGLRE
LWDSVLRASC LLPELLSALH RLVGLQAALW LSADRLGDLA LLLETLNGSQ SGASKDLLLL
LKTWSPPAEE LDAPLTLQDA QGLKDVLLTA FAYRQGLQEL ITGNPDKALS SLHEAASGLC
PRPVLVQVYT ALGSCHRKMG NPQRALLYLV AALKEGSAWG PPLLEASRLY QQLGDTTAEL
ESLELLVEAL NVPCSSKAPQ FLIEVELLLP PPDLASPLHC GTQSQTKHIL ASRCLQTGRA
GDAAEHYLDL LALLLDSSEP RFSPPPSPPG PCMPEVFLEA AVALIQAGRA QDALTLCEEL
LSRTSSLLPK MSRLWEDARK GTKELPYCPL WVSATHLLQG QAWVQLGAQK VAISEFSRCL
ELLFRATPEE KEQGAAFNCE QGCKSDAALQ QLRAAALISR GLEWVASGQD TKALQDFLLS
VQMCPGNRDT YFHLLQTLKR LDRRDEATAL WWRLEAQTKG SHEDALW*

Mutated AA sequence

MSRQTTSVGS SCLDLWREKN DRLVRQAKVA QNSGLTLRRQ QLAQDALEGL RGLLHSLQGL
PAAVPVLPLE LTVTCNFIIL RASLAQGFTE DQAQDIQRSL ERVLETQEQQ GPRLEQGLRE
LWDSVLRASC LLPELLSALH RLVGLQAALW LSADRLGDLA LLLETLNGSQ SGASKDLLLL
LKTWSPPAEE LDAPLTLQDA QGLKDVLLTA FAYRQGLQEL ITGNPDKALS SLHEAASGLC
PRPVLVQVYT ALGSCHRKMG NPQRALLYLV AALKEGSAWG PPLLEASRLY QQLGDTTAEL
ESLELLVEAL NVPCSSKAPQ FLIEVELLLP PPDLASPLHC GTQSQTKHIL ASRCLQTGRA
GDAAEHYLDL LALLLDSSEP RFSPPPSPPG PCMPEVFLEA AVALIQAGRA QDALTLCEEL
LSRTSSLLPK MSRLWEDARK GTKELPYCPL WVSATHLLQG QAWVQLGAQK VAISEFSRCL
ELLFRATPEE KEQGAAFNCE QGCKSDAALQ QLRAAALISR GLEWVASGQD TKALQDFLLS
VQMCPGN*

Position of stopcodon in wt / mu CDS

1764 / 1644

Position (AA) of stopcodon in wt / mu AA sequence

588 / 548

Position of stopcodon in wt / mu cDNA

2166 / 2046

Position of start ATG in wt / mu cDNA

403 / 403

Last intron/exon boundary

2038

Theoretical NMD boundary in CDS

1585

Length of CDS

1764

Coding sequence (CDS) position

1642

cDNA position

2044

gDNA position

5516

Chromosomal position

35074489

Speed

0.10 s

All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project